NM_001127222.2(CACNA1A):c.6483C>T (p.Arg2161=) AND not provided

Clinical significance:Likely benign (Last evaluated: Dec 14, 2020)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000996775.4

Allele description [Variation Report for NM_001127222.2(CACNA1A):c.6483C>T (p.Arg2161=)]

NM_001127222.2(CACNA1A):c.6483C>T (p.Arg2161=)

Gene:
CACNA1A:calcium voltage-gated channel subunit alpha1 A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.13
Genomic location:
Preferred name:
NM_001127222.2(CACNA1A):c.6483C>T (p.Arg2161=)
HGVS:
  • NC_000019.10:g.13209355G>A
  • NG_011569.1:g.302106C>T
  • NM_000068.4:c.6501C>T
  • NM_001127221.1:c.6486C>T
  • NM_001127221.2:c.6486C>T
  • NM_001127222.2:c.6483C>TMANE SELECT
  • NM_001174080.2:c.6492C>T
  • NM_023035.3:c.6501C>T
  • NP_000059.3:p.Arg2167=
  • NP_001120693.1:p.Arg2162=
  • NP_001120693.1:p.Arg2162=
  • NP_001120694.1:p.Arg2161=
  • NP_001167551.1:p.Arg2164=
  • NP_075461.2:p.Arg2167=
  • LRG_7t1:c.6486C>T
  • LRG_7:g.302106C>T
  • LRG_7p1:p.Arg2162=
  • NC_000019.9:g.13320169G>A
  • NM_000068.2:c.6486C>T
  • p.Arg2162Arg
Links:
dbSNP: rs745609731
NCBI 1000 Genomes Browser:
rs745609731
Molecular consequence:
  • NM_000068.4:c.6501C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001127221.1:c.6486C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001127221.2:c.6486C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001127222.2:c.6483C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001174080.2:c.6492C>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_023035.3:c.6501C>T - synonymous variant - [Sequence Ontology: SO:0001819]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000716608GeneDxcriteria provided, single submitter
Likely benign
(Dec 14, 2020)
germlineclinical testing

Citation Link,

SCV001151691CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Likely benign
(Sep 1, 2020)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000716608.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001151691.7

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Oct 30, 2021

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